نتایج جستجو برای: pachygyria

تعداد نتایج: 105  

Journal: :American journal of medical genetics 1998
J H Lin J W Hou R J Teng H F Tien K H Lin

We describe a male infant with unusual facial appearance, relative pancytopenia, bilateral simian creases, and an accessory nipple. Cytogenetic analysis showed deletion of the long arm of chromosome 11 [46,XY,del(11)(pter-->q23.2:)]. Bone-marrow study showed a myelodysplastic change of hemopoietic cells compatible with peripheral blood findings. Pachygyria of the temporal and frontal lobes was ...

2017
Annalisa Mencarelli Paolo Prontera Gabriela Stangoni Elisabetta Mencaroni Nicola Principi Susanna Esposito

Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Neurological disorders caused by abnormal neuronal migration have been observed to occur with mutations in tubulin genes. The α- and β-tubulin genes encode cytoskeletal proteins, which play a role in the developing brain. TUBA1A mutations are associated with a wide spectrum of neurological pr...

Journal: :Neurosciences 2009
Roshan L Koul Amna M Alfuitasi Dilip K Sankhla Hashim Javad Ranjan R William

OBJECTIVE To record the pattern of different neuronal migrational disorders (NMD) and their associated neurological conditions. METHODS The data were collected at the Child Neurology Services of Sultan Qaboos University Hospital, Oman, from January 1993 to September 2006 from all children with psychomotor delay and epilepsy, who underwent brain imaging (mostly MRI). The MR imaging was used fo...

2015
Renske Oegema Thomas D. Cushion Ian G. Phelps Seo-Kyung Chung Jennifer C. Dempsey Sarah Collins Jonathan G.L. Mullins Tracy Dudding Harinder Gill Andrew J. Green William B. Dobyns Gisele E. Ishak Mark I. Rees Dan Doherty

Mutations in alphaand beta-tubulins are increasingly recognised as a major cause of malformations of cortical development (MCD), typically lissencephaly, pachygyria and polymicrogyria; however, sequencing tubulin genes in large cohorts of MCD patients has detected tubulin mutations in only 1-13%. We identified patients with a highly-characteristic cerebellar dysplasia but without the lissenceph...

Journal: :Journal of Clinical and Experimental Dentistry 2017

Alireza Jashni Motlagh Mousa Ahmadpourkacho Yadollah Zahedpasha

Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...

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